ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.618T>A (p.Ala206=)

dbSNP: rs397516710
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037313 SCV000060970 likely benign not specified 2011-12-23 criteria provided, single submitter clinical testing Ala206Ala in exon 6 in DSG2: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. Ala206Ala in exon 6 in DSG2 (allele frequency = n/a)
Color Diagnostics, LLC DBA Color Health RCV001177316 SCV001341510 likely benign Cardiomyopathy 2020-03-17 criteria provided, single submitter clinical testing
GeneDx RCV001719741 SCV001948836 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054652 SCV002394759 likely benign Arrhythmogenic right ventricular dysplasia 10 2023-03-01 criteria provided, single submitter clinical testing

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